Results 131 to 140 of about 7,037 (201)

Single‐Cell RNA Sequencing Informs Precision Targeting of Monogenic Lupus Associated With IKZF1 Haploinsufficiency

Arthritis &Rheumatology, EarlyView.
Objective This study aimed to investigate the mechanisms of immune dysregulation in a pediatric patient with monogenic lupus driven by IKZF1 haploinsufficiency. Methods Peripheral immune cells from a patient with IKZF1 haploinsufficiency, patients with lupus with no currently known genetic mutations, and healthy controls were analyzed using single‐cell
Qi Zheng, Yejun Tan, Zhaoling Wang, Yanjie Qian, Qian Ma, Danping Shen, Meiping Lu   +6 more
wiley   +1 more source

Proband-independent noninvasive prenatal diagnosis for spinal muscular atrophy: early detection paving the way for early prenatal treatment. [PDF]

Ann Med
Li H, Gao S, Li S, Zhao Z, Fu X, Zhu J, Feng J, Tang W, Wu D, Kong X.   +9 more
europepmc   +1 more source

OGFRL1 Deficiency Causes Chronic Recurrent Multifocal Osteomyelitis Via Pathologic Osteoclastogenesis, With Therapeutic Response to Tumor Necrosis Factor Inhibitor

Arthritis &Rheumatology, EarlyView.
Objective To verify the pathogenesis of the opioid growth factor receptor like‐1 (OGFRL1) loss‐of‐function variant (c.30del, p. F10Ffs*110) identified in a patient with chronic recurrent multifocal osteomyelitis (CRMO) and to investigate the underlying mechanism.
Wen Xiong, Yusha Wang, Tingyan He, Jinjian Fu, Ying Luo, Jinbo Wang, Jun Wang, Xiaomin Yu, Qing Zhou, Jun Yang   +9 more
wiley   +1 more source

Analysis of the molecular mechanism underlying di(2-ethylhexyl) phthalate-induced bladder carcinogenesis via network toxicology and molecular docking approaches: An observational study. [PDF]

Medicine (Baltimore)
Jiang M, Sun C, Wang B, Huang Q, Hu Q, Che X.   +5 more
europepmc   +1 more source

Technology‐enhanced learning in higher education institutions: Exploring the lived experiences of students with specific learning differences and their lecturers

British Educational Research Journal, EarlyView.
Abstract This paper challenges the prevailing assumption that technology‐enhanced learning (TEL) inherently benefits all students in higher education, examining how undergraduate students with specific learning differences (SpLDs) and/or autism spectrum disorder (ASD) use technology for learning.
Alexia Achtypi, Abass B. Isiaka, Jeremy Schildt, Fabio Arico   +3 more
wiley   +1 more source

Germline de novo mutation rate of the highly heterozygous amphioxus genome. [PDF]

Mol Biol Evol
Xue J, Tao L, Cao J, Wu L, Li G, Li C.
europepmc   +1 more source

Employability Programmes in higher education: Supporting students through tangible, transitional and transformational approaches

British Educational Research Journal, EarlyView.
Abstract As the UK higher education sector becomes increasingly market‐driven and focused on preparing students for the graduate labour market, universities must define and contextualise employability and their role in supporting students beyond academia.
Michael Maher, Ecem Karlidag‐Dennis, Richard Hazenberg, David Conway   +3 more
wiley   +1 more source

Age-Stratified Genetic Spectrum of Retinitis Pigmentosa in Korean Patients: Predominance of <i>RPGR</i> Variants in Early-Onset Disease. [PDF]

Ann Lab Med
Hong YJ, Hwang S, Jang JH, Kim JW, Kim SJ, Jang MA.   +5 more
europepmc   +1 more source

ACVR mutation [NM_001105.4:c.774G>T (p.Arg258Ser)] in pediatric fibrodysplasia ossificans progressiva complicated by scoliosis: a case report. [PDF]

Front Pediatr
Yang F, Liu M, Pei S, Huang J, Wang H.
europepmc   +1 more source

The ageing holobiont: crosstalk between telomere dynamics, oxidative stress and the gut microbiome

Biological Reviews, EarlyView.
ABSTRACT The gut tissue is at the frontline of early onset of ageing. It exhibits high cell turnover rates and rapid telomere shortening, which can have systemic effects on the developing or senescing organism. We conducted a literature review of studies on the crosstalk between telomere length dynamics, telomerase activity, oxidative stress, and gut ...
Michael L. Pepke, Søren B. Hansen, Morten T. Limborg   +2 more
wiley   +1 more source